Canonical Allele Identifier: CA16036361

Gene: APC

Linked Data

• MyVariant Identifiers: chr5:g.112178179T>A (hg19) ; chr5:g.112842482T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842482T>A , CM000667.2:g.112842482T>A	GRCh38
NC_000005.9:g.112178179T>A , CM000667.1:g.112178179T>A	GRCh37
NC_000005.8:g.112206078T>A	NCBI36
NG_008481.4:g.154962T>A , LRG_130:g.154962T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.6942T>A	ENSP00000473355.2:p.Ser2314Arg
ENST00000505350.2:c.*6894T>A	ENSP00000481752.1:n.*6894T>A
ENST00000507379.6:c.6834T>A	ENSP00000423224.2:p.Ser2278Arg
ENST00000509732.6:c.6888T>A	ENSP00000426541.2:p.Ser2296Arg
ENST00000512211.7:c.6888T>A	ENSP00000423828.3:p.Ser2296Arg
ENST00000257430.9:c.6888T>A MANE Select	ENSP00000257430.4:p.Ser2296Arg
ENST00000257430.8:c.6888T>A	ENSP00000257430.4:p.Ser2296Arg
ENST00000508376.6:c.6888T>A	ENSP00000427089.2:p.Ser2296Arg
ENST00000508624.5:c.*6210T>A	ENSP00000424265.1:n.*6210T>A
ENST00000520401.1:c.230+13510T>A
NM_000038.5:c.6888T>A	NP_000029.2:p.Ser2296Arg
NM_001127510.2:c.6888T>A	NP_001120982.1:p.Ser2296Arg
NM_001127511.2:c.6834T>A	NP_001120983.2:p.Ser2278Arg
NM_001354895.1:c.6888T>A	NP_001341824.1:p.Ser2296Arg
NM_001354896.1:c.6942T>A	NP_001341825.1:p.Ser2314Arg
NM_001354897.1:c.6918T>A	NP_001341826.1:p.Ser2306Arg
NM_001354898.1:c.6813T>A	NP_001341827.1:p.Ser2271Arg
NM_001354899.1:c.6804T>A	NP_001341828.1:p.Ser2268Arg
NM_001354900.1:c.6765T>A	NP_001341829.1:p.Ser2255Arg
NM_001354901.1:c.6711T>A	NP_001341830.1:p.Ser2237Arg
NM_001354902.1:c.6615T>A	NP_001341831.1:p.Ser2205Arg
NM_001354903.1:c.6585T>A	NP_001341832.1:p.Ser2195Arg
NM_001354904.1:c.6510T>A	NP_001341833.1:p.Ser2170Arg
NM_001354905.1:c.6408T>A	NP_001341834.1:p.Ser2136Arg
NM_001354906.1:c.6039T>A	NP_001341835.1:p.Ser2013Arg
NM_000038.6:c.6888T>A MANE Select	NP_000029.2:p.Ser2296Arg
NM_001127510.3:c.6888T>A	NP_001120982.1:p.Ser2296Arg
NM_001127511.3:c.6834T>A	NP_001120983.2:p.Ser2278Arg
NM_001354895.2:c.6888T>A	NP_001341824.1:p.Ser2296Arg
NM_001354896.2:c.6942T>A	NP_001341825.1:p.Ser2314Arg
NM_001354897.2:c.6918T>A	NP_001341826.1:p.Ser2306Arg
NM_001354898.2:c.6813T>A	NP_001341827.1:p.Ser2271Arg
NM_001354899.2:c.6804T>A	NP_001341828.1:p.Ser2268Arg
NM_001354900.2:c.6765T>A	NP_001341829.1:p.Ser2255Arg
NM_001354901.2:c.6711T>A	NP_001341830.1:p.Ser2237Arg
NM_001354902.2:c.6615T>A	NP_001341831.1:p.Ser2205Arg
NM_001354903.2:c.6585T>A	NP_001341832.1:p.Ser2195Arg
NM_001354904.2:c.6510T>A	NP_001341833.1:p.Ser2170Arg
NM_001354905.2:c.6408T>A	NP_001341834.1:p.Ser2136Arg
NM_001354906.2:c.6039T>A	NP_001341835.1:p.Ser2013Arg